遗传代谢病住院患儿的营养管理  

Nutritional management of inherited metabolic diseases in hospitalized children

作　　者：贾雪琦 洪莉[1] JIA Xue-qi;HONG Li(Department of Clinical Nutrition,Shanghai Children's Medical Center,School of Medicine,Shanghai Jiao Tong University,Shanghai 200127,China)

机构地区：[1]上海交通大学医学院附属上海儿童医学中心临床营养科,上海200127

出　　处：《中国实用儿科杂志》2022年第10期724-727,共4页Chinese Journal of Practical Pediatrics

基　　金：上海卫生健康系统重要薄弱学科建设项目(2019ZB0103)。

摘　　要：遗传代谢病临床表现复杂,缺乏特异性,容易漏诊或误诊,有赖于遗传学或生化学等方法尽早确诊。饮食疗法是遗传代谢病的主要治疗手段之一,及时的临床诊断、治疗、适当的个体化营养干预及包括营养支持小组的多学科合作,对于改善遗传代谢病患儿的疾病转归及预后有重要意义。遗传代谢病患儿的长期营养管理过程中仍存在许多问题亟待解决。The clinical manifestations of inherited metabolic diseases are nonspecific,which depends on the early diagnosis by genetic or biochemical methods. Diet therapy plays a significant role. Timely clinical treatment and appropriate individualized nutritional intervention are of great significance for the disease outcome and prognosis of children with IEM.However,there are still many problems in the long-term nutritional management of IEM patients.

关 键 词：遗传代谢病 营养管理 多学科合作 住院患儿 

分 类 号：R72[医药卫生—儿科]